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DNA Damage can Stall the Cell Cycle02:36

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In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...
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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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RAD50 missense variants differentially affect the DNA damage response and mitotic progression.

Hanna Redeker1, Swantje Kebel1, Lea Völkening1

  • 1Gynaecology Research Unit, Hannover Medical School, Germany.

FEBS Letters
|October 1, 2025
PubMed
Summary

RAD50 protein variants impact DNA repair and cell division differently. Some RAD50 variants impair responses to chemotherapy and cell cycle progression, suggesting distinct roles in genomic instability and cancer.

Keywords:
DNA damage responseMRN complexRAD50 deficiencybreast cancerepirubicinmissense variantsseparation of function

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Area of Science:

  • Molecular Biology
  • Genetics
  • Cancer Research

Background:

  • RAD50 is essential for DNA double-strand break repair via the MRN complex.
  • RAD50 deficiency leads to genomic instability, microcephaly, and stunted growth.

Purpose of the Study:

  • To investigate if cancer-related RAD50 missense variants can restore DNA damage response and mitotic progression in RAD50-deficient cells.
  • To analyze the functional impact of RAD50 variants on epirubicin treatment response and cell division.

Main Methods:

  • Utilized lentiviral constructs to introduce RAD50 missense variants into RAD50-deficient fibroblasts.
  • Assessed complementation of DNA damage response after epirubicin exposure.
  • Evaluated mitotic progression in cells expressing RAD50 variants.

Main Results:

  • Eight RAD50 missense variants, capable of forming the MRN complex, partially restored DNA damage response and mitotic features.
  • Three variants demonstrated impaired epirubicin response and slowed cell division, falling within the likely pathogenic range.
  • Functional analysis revealed separable roles for RAD50 in DNA repair and cell cycle progression.

Conclusions:

  • Functional heterogeneity exists among RAD50 missense variants, impacting DNA repair and cell division distinctly.
  • Assessing RAD50 variants at multiple functional levels can clarify their roles in diseases like immunodeficiency and cancer.
  • Understanding variant-specific functions may inform improved therapeutic strategies for cancer and related disorders.